Nadav Sahar Sahar Dr. Nadav Dr. Patient Details Patient Details - PDF document

Nadav Sahar Sahar Dr. Nadav Dr.

Patient Details Patient Details  47 year old female  Previously healthy no regular medications Previously healthy, no regular medications  No family history of malignancy or IBD N f il hi t f li IBD 04/06/2013 Case presentation 2

Complaints Complaints  2 days of RLQ pain, cramps  No fever  Normal stool  Nausea, no vomiting  No weight loss previously 04/06/2013 Case presentation 3

On Admission On Admission  Emergency room – hemodynamically stable, temp 37.4  Physical exam – soft abdomen, RLQ tenderness  Blood tests- WBC 13.8K, normal chemistry  Abdominal CT (no IV contrast d/t iodine CAVE) 04/06/2013 Case presentation 4

Imaging Imaging – – CT Scan CT Scan 04/06/2013 Case presentation 5

Work Work- -up up  Admission to surgery ward  IV antibiotics  Blood markers – CEA , CA 19-9, AFP - normal  Colonoscopy 04/06/2013 Case presentation 6

Colonoscopy Colonoscopy  Cecum examined – no mass or stricture identified. Intubation of terminal ileum not feasible terminal ileum not feasible.  Multiple (>40) benign appearing polyps along the colon, 2-15mm in size, mostly sessile  Retroflexion- 1-2mm polyps to the distal rectum  Retroflexion 1 2mm polyps to the distal rectum  Polypectomies: yp  Proximal colon  Sigmoid colon  Rectal polyps 04/06/2013 Case presentation 7

Biopsies Biopsies – – Ascending Colon Ascending Colon Mild to moderate chronic active inflammation with lymphocytic aggregates, reactive and hyperplastic mucosal changes. h 04/06/2013 Case presentation 8

Biopsies Biopsies – – Sigmoid Colon Sigmoid Colon Tubular adenomas, low grade dysplasia. , g y p 04/06/2013 Case presentation 9

Differential Considerations Differential Considerations  Discrepancy between CT findings and colonoscopy  Multiple hyperplastic polyps  Resolution of symptoms with antibiotics 04/06/2013 Case presentation 10

Keys to Diagnosis Keys to Diagnosis Revision of Revision of PET CT PET-CT G Gastroscopy t biopsies 04/06/2013 Case presentation 11

Further Work Further Work- -up up  PET-CT – no cecal mass seen, no uptake of FDG  Gastroscopy – small sliding diaphragmatic hernia  Biopsies reviewed:  Ascending colon- serrated adenomas  Sigmoid colon- TA LGD  Distal rectum- inflammatory  Repeat colonoscopy p py 04/06/2013 Case presentation 12

Repeat Colonoscopy Repeat Colonoscopy  Multiple colonic polyps- snare resection of cecal polyp, several ascending colon polyps, rectosigmoid polyps, l di l l t i id l micropolyps at 18cm  Sigmoid and ascending colon diverticulosis  All polyps on biopsies – adenomas with LGD 04/06/2013 Case presentation 13

04/06/2013 Case presentation 14

Further Evaluation Further Evaluation  Genetic counseling- suspected hereditary polyposis syndrome  Repeat sigmoidoscopy with indigo carmine 04/06/2013 Case presentation 15

Summary Summary  Referred to subtotal colectomy – multiple adenomas in surgical specimen  1 st admission- diverticulitis? 1 st admission di ertic litis? Genetic G G Genetic evaluation : ti ti evaluation : l l ti ti MUTYH associated MUTYH associated polyposis U U assoc ated assoc ated po ypos s polyposis po ypos s (G (G396 396D mutation) D mutation) 04/06/2013 Case presentation 16

MUTYH Associated Polyposis MUTYH Associated Polyposis  Recessive mode of inheritance  Base excision repair protein important in DNA repair following oxidative damage g g  Usually 10-500 polyps  Proximal location CRC, conventional adenomas/serrated adenomas/hyperplastic polyps yp p p yp  Extracolonic tumors- duodenum, ovaries, bladder, skin 04/06/2013 Case presentation 17

MAP MAP– – Screening Recommendations Screening Recommendations  Colonoscopy every 1-2 years from age 18, gastroscopy from age 25-30  Subtotal colectomy when number of polyps exceeds possible endoscopic removal p p  Detection and removal of hyperplastic polyps  Detection and removal of hyperplastic polyps indicated 04/06/2013 Case presentation 18

Thanks Thanks 04/06/2013 Case presentation 19